Hereditary haemochromatosis: detection and management

Hereditary haemochromatosis is common, affecting one in 200 Australians of Anglo-Celtic descent; it results in iron overload affecting many organs, including the liver, heart, endocrine and musculoskeletal system. Diagnosis requires a high index of suspicion, as presenting symptoms and signs may be non-specific. Once suspected, hereditary haemochromatosis can be readily diagnosed by measurement of serum transferrin saturation and ferritin level, followed by genetic assessment. Homozygosity for the C282Y mutation in the HFE gene accounts for most cases in people of Anglo-Celtic descent in Australia; a genetic test for this mutation is widely available. Liver biopsy is advocated only in selected individuals at risk of cirrhosis or with an unclear diagnosis. Therapeutic phlebotomy remains the treatment and, if instituted early, will prevent many of the organ-specific complications.